PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11136341
rs11136341 		8 143969375 intron variant A/G snv 0.40
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs11136341
rs11136341 		8 143969375 intron variant A/G snv 0.40
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs7464572
rs7464572 		8 143946999 intron variant C/A;G snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2013 2017
dbSNP: rs6995402
rs6995402 		8 143931393 intron variant T/C snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs80338756
rs80338756 		0.925 0.080 8 143924012 missense variant G/A;C;T snv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 2002 2002
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2013
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1996 2010
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1996 2010
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 3 1996 2010
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		0.700 1.000 3 1996 2010
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 1996 2010
dbSNP: rs11136341
rs11136341 		8 143969375 intron variant A/G snv 0.40
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs11783772
rs11783772 		8 143934275 intron variant A/T snv 0.33 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2019 2019
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2000 2013
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		0.700 1.000 2 2000 2013
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2000 2013
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2000 2013
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 2 2000 2013
dbSNP: rs1065837
rs1065837 		8 143916167 3 prime UTR variant G/A snv 0.35; 7.5E-06 0.31
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs11136336
rs11136336 		8 143933019 missense variant G/A snv 0.33 0.29
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs111730406
rs111730406 		0.827 0.160 8 143927993 splice acceptor variant C/G;T snv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 1 2013 2013